Workflow: exome alignment and germline variant detection

Fetched 2025-01-03 22:30:27 GMT
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Inputs

ID Type Title Doc
bams File[]
dbsnp File
mills File
omni_vcf File
intervals a666490002482eb5e076480a9af41753[]
reference String
readgroups String[]
coding_only Boolean (Optional)
known_indels File
gvcf_gq_bands String[]
synonyms_file File (Optional)
vep_cache_dir String (Optional)
bait_intervals File
bqsr_intervals String[] (Optional)
hgvs_annotation Boolean (Optional)
target_intervals File
custom_gnomad_vcf File (Optional)
per_base_intervals File
minimum_base_quality Integer (Optional)
per_target_intervals File
minimum_mapping_quality Integer (Optional)
per_base_bait_intervals File
emit_reference_confidence String
per_target_bait_intervals File
picard_metric_accumulation_level String

Steps

ID Runs Label Doc
detect_variants exome alignment and germline variant detection
extract_freemix
germline_exome_workflow.cwl#extract_freemix/4ee1fe1e-9294-48b7-907a-bfce27668d9c (ExpressionTool)
alignment_and_qc
exome_alignment.cwl (Workflow)
exome alignment with qc

Outputs

ID Type Label Doc
cram File
gvcf File[]
final_vcf File
flagstats File
coding_vcf File
hs_metrics File
limited_vcf File
vep_summary File
insert_size_metrics File
per_base_hs_metrics File (Optional)
verify_bam_id_depth File
insert_size_histogram File
per_target_hs_metrics File (Optional)
verify_bam_id_metrics File
mark_duplicates_metrics File
alignment_summary_metrics File
per_base_coverage_metrics File (Optional)
per_target_coverage_metrics File (Optional)
Permalink: https://w3id.org/cwl/view/git/6eb7d35ad46207f4ff49e84106b717e17331eb4b/germline_exome_workflow.cwl